Opposite effects of internal globus pallidus stimulation on pallidal neurones activity.

Besides clinical efficacy, the mechanisms of action of deep brain stimulation (DBS) are still debated. To shed light on this complex issue, we have taken the opportunity to record the response of globus pallidus internus (GPi) neurones to 100 Hz stimulations in a case of Lesch-Nyhan syndrome (LNS) where four pallidal electrodes were implanted. Three types of response were observed, 2/19 neurones were unaffected by DBS. About 7/19 neurones were inhibited during DBS stimulation and 10/19 neurones were excited during DBS stimulation. Both effects ceased when DBS was turned off. Inhibited neurones were situated lower that exited ones on the trajectory (1.25 and 4.65 mm above the center of GPi respectively). These observations suggest that locally DBS induces a reversible inhibition of neurone firing rate while at the same time distantly exciting the main afferents to and/or efferents from the GPi. Both actions would result in a strong GPi inhibition that does not preclude increased outflow from the GPi.     

Adie's syndrome in childhood

An 8-year-old girl with a history of mild amblyopia who had occlusion therapy, but her anisocoria went unnoticed, was studied. Old photographs of the patient were reviewed and a 0.1% pilocarpine test was performed. Review of her old photographs suggested that she had anisocoria at least since she was 3 years old. The 0.1% pilocarpine test confirmed a diagnosis of Adie's syndrome. In light of this case, it must be kept in mind that though rare, Adie's syndrome can be encountered in early childhood.     

Cluster headache after orbital exenteration

A 37-year old man developed an ipsilateral headache which fulfilled the criteria for cluster headache after orbital exenteration because of traumatic lesion of the bulb. The headache could be treated successfully by drugs usually applied in the therapy of cluster headache. Six similar cases of cluster headache after orbital exenteration could be identified in the literature suggesting that the eye itself is not necessarily part of the pathogenesis of cluster headache. We hypothesize that orbital exenteration can cause cluster headache by lesions of sympathetic structures. Possibly, these mechanisms are similar to those of sympathetic reflex dystrophy (Sudeck-Leriche syndrome) causing pain of the limbs.     

Factors affecting the neonatal response to artificial surfactant

Objective : To define the individual neonatal response to the artificial surfactant, Exosurf, and factors that may influence the response.
Methodology : Eighty-two consecutive, preterm neonates with respiratory distress syndrome, who received Exosurf at <12h of age were studied. Their response was categorized from the graphical change in the oxygenation index with postnatal age, for 12h after each of two doses of surfactant and assessed independently by two observers. Clinical factors were analysed for their effect on the four pre-defined categories of response, namely: none; mild; good; relapsed; and good: sustained.
Results : Within the first 12h, 11% of the neonates showed no response, 5% a mild response and 84% a good response, but 34% relapsed. By 24h, 6% still showed no response (all died), 11% showed a mild response and 83% a good response, of whom half relapsed. At 24h, no response was significantly associated with low gestational age and asphyxia mild response with less severe lung disease. According to the response there was a gradation in the risk of death during the first week.
Conclusions : The response to Exosurf can be individually and reproducibly categorized and demonstrated that 83% of neonates had a good response but half relapsed. No response was associated with extreme prematurity and asphyxia     

An atypical case of mononeuritis multiplex in primary Sjogren's syndrome

We present an atypical case of peripheral nervous system (PNS) involvement in Sjogren's syndrome in a 63 year-old woman. Symptoms of an entrapment neuropathy were the first manifestation of the systemic disease and they were subsequently coupled to those of a mononeuritis multiplex. Clinical and laboratory signs for the diagnosis of Sjogren's syndrome became subsequently overt. The mononeuritis multiplex remained clinically limited to the upper limbs and characterized by unusually severe motor symptoms which progressed up to the development of a final complete deplegia. By contrast, sensory symptoms at the upper limbs remained mild over the entire course of the disease and the lower limbs revealed a subclinical sensory-motor damage only during the late stage.     

Pseudotumoral appearance of small bowel strictureplasty for Crohn's disease

In two patients with Crohn's disease, strictureplasties had been marked operatively by a metal clip, so that definitive location on subsequent small bowel examination was possible. Each stricture-plasty presented radiologically as a short annular constriction with apparently shouldered edges and parallel lumen. Similar radiological features were found in five other patients with strictureplasties, suggesting that a pseudotumoral appearance is characteristic of strictureplasty. Attention is drawn to this finding to avoid confusion with malignancy.     

Abdominal zygomycotic thromboangiitis in a patient with AML and t(1;13;14)

 The case report of a 61 year-old man with AML M2 FAB, t(1; 13; 14) and zygomycotic mesenterial thromboangiitis is presented. Two induction cycles of chemotherapy were administered due to primary drug resistance. They were complicated by pneumonia, colonic pseudo-obstruction and perforation with peritonitis. The patient died on the 40th day of therapy, 4 days after undergoing palliative surgery. Zygomycotic thromboangiitis, which very probably contributed to the intestinal perforation, was confirmed morphologically at necropsy. The novel complex chromosomal translocation t(1; 13; 14) (q31; q32; q24) and the problems connected with the diagnosis of invasive fungal infections are discussed. Received: 26 January 1996 / Accepted: 12 June 1996     

Deficiency of P-selectin in a patient with grey platelet syndrome

Abstract: Patient B.G. is a 29-yr-old female with a lifelong bleeding disorder characterized clinically by a highly increased bleeding time, menorrhagias, long-lasting bleeding after cuts and tooth extractions and large post-traumatic haematomas. Her coagulation tests were within normal range, platelet count was 140,000–160,000 per μl, but platelet function was impaired as demonstrated by the absence of collagen-induced aggregation, although no abnormalities were detected in aggregation response to ADP and ristocetin. Morphologically her platelets were characterized by gigantic size – average profile area was about 2.5 times higher than that of control donors, and severe deficiency of α-granules – only 16% of their number in control donors. These features taken together indicated the diagnosis of grey platelet syndrome. As has been shown by quantitative immunoblotting, patient's platelets contained small amounts of α-granule membrane protein P-selectin – about 15% of that in control donors. The content of plasma membrane glycoproteins IIb–IIIa and Ib was not reduced, suggesting the specific deficiency of α-granule membrane protein. Thus, B.G. is the second patient described in the literature (see also Lages et al, J Clin Invest 1991: 87: 919–929) with combined deficiency of α-granules and P-selectin.